COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
Ann Neurol
; 62(2): 177-84, 2007 Aug.
Article
em En
| MEDLINE
| ID: mdl-17696175
ABSTRACT
OBJECTIVE:
Several hereditary ischemic small-vessel diseases of the brain have been reported during the last decade. Some of them have ophthalmological, mainly retinal, manifestations. Herein, we report on a family affected by vascular leukoencephalopathy and variable abnormalities of the anterior chamber of the eye.METHODS:
After the occurrence of a small, deep infarct associated with white matter lesions in a patient with a medical history of congenital cataract and amblyopia, we conducted clinical and neuroradiological investigations in 10 of her relatives.RESULTS:
Diffuse leukoencephalopathy associated with ocular malformations of the Axenfeld-Rieger type was observed in five individuals. Familial genetic analyses led to the identification of a novel missense mutation in the COL4A1 gene, p.G720D, which cosegregates with the disease.INTERPRETATION:
Our data corroborate previous observations demonstrating the role of COL4A1 in cerebral microangiopathy and expand the phenotypic spectrum associated with mutations in this gene. We delineate a novel association between the Axenfeld-Rieger anomaly and leukoencephalopathy and stroke. Ann Neurol 2007.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Autoantígenos
/
Encefalopatias
/
Anormalidades do Olho
/
Mutação de Sentido Incorreto
/
Acidente Vascular Cerebral
/
Colágeno Tipo IV
/
Segmento Anterior do Olho
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
França